(精编)A novel Cys1638Tyr NC1 domain substitution in a5(IV) collagen ...教学课件.pptVIP

A mild form of Alport syndrome: Hereditary nephropathy in the absence of extra-renal features;Alport syndrome (AS);Alport syndrome: genetics;Type IV collagen formation;Histology of V42;IHC for a3, a4 and a5(IV);Diagnostic dilemma;Extended family pedigree;Family pedigree (simplified);Two point LOD scores between the GN locus and markers mapping to chromosome Xq21.33-23;Nucleotide sequence alteration in COL4A5 in affected family members;Identif-ication number;Depiction of NC1 domain showing locations of cysteine sequence alterations and clinical details of patients;Summary;Histology of fema